| Modification Notes |
O-mannosylation is an essential protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. The POMT1 (protein O-mannosyltransferase 1) protein consists of 725 amino acids. POMT1 contains seven to twelve presumed transmembrane regions and a C-terminal ER membrane retention signal; RT-PCR reveals several mRNA splice variants. RNA dot blot analysis indicates ubiquitous expression of POMT1, with maximum levels in testis and high levels in fetal brain and pituitary tissues. Walker-Warburg syndrome (WWS), a severe, recessive, congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities, is caused by mutations in the POMT1 gene. |